ClinVar for Gene (Select 7739) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062489	GRCh37/hg19 Xq28(chrX:151869764-152155626)	CETN2, CSAG1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685771	GRCh37/hg19 Xq28(chrX:151894072-152228928)x2	CETN2, CSAG1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685024	GRCh37/hg19 Xq28(chrX:151935519-152329158)x3	CETN2, MAGEA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2661675	NM_001395254.1(ZNF185):c.666G>C (p.Val222=)	ZNF185	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661674	NM_001395254.1(ZNF185):c.183C>T (p.Arg61=)	ZNF185	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605886	NM_001395254.1(ZNF185):c.1571C>T (p.Pro524Leu)	ZNF185 (P523L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554561	NM_001395254.1(ZNF185):c.452G>A (p.Arg151His)	ZNF185 (R151H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549559	NM_001395254.1(ZNF185):c.1249G>A (p.Ala417Thr)	ZNF185 (A325T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547907	NM_001395254.1(ZNF185):c.1096G>A (p.Val366Ile)	ZNF185 (V365I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532271	NM_001395254.1(ZNF185):c.46C>T (p.Pro16Ser)	ZNF185 (P16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520627	NM_001395254.1(ZNF185):c.755G>A (p.Arg252Lys)	ZNF185 (R252K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518584	NM_001395254.1(ZNF185):c.1238C>G (p.Ser413Cys)	ZNF185 (S321C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2486648	NM_001395254.1(ZNF185):c.469G>T (p.Asp157Tyr)	ZNF185 (D22Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480349	NM_001395254.1(ZNF185):c.184G>A (p.Ala62Thr)	ZNF185 (A62T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469439	NM_001395254.1(ZNF185):c.764C>T (p.Ala255Val)	ZNF185 (A254V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2463317	NM_001395254.1(ZNF185):c.679G>A (p.Gly227Arg)	ZNF185 (G64R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462692	NM_001395254.1(ZNF185):c.230C>T (p.Pro77Leu)	ZNF185 (P77L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459399	NM_001395254.1(ZNF185):c.1060G>A (p.Gly354Arg)	ZNF185 (G294R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	PNMA5, PNMA6A +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2401598	NM_001395254.1(ZNF185):c.1265A>G (p.Asn422Ser)	ZNF185 (N392S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393677	NM_001395254.1(ZNF185):c.1172A>G (p.His391Arg)	ZNF185 (H390R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380787	NM_001395254.1(ZNF185):c.1301C>G (p.Pro434Arg)	ZNF185 (P180R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367970	NM_001395254.1(ZNF185):c.1387G>A (p.Gly463Ser)	ZNF185 (G371S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365988	NM_001395254.1(ZNF185):c.151C>T (p.Arg51Cys)	ZNF185 (R51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363186	NM_001395254.1(ZNF185):c.571C>T (p.Arg191Trp)	ZNF185 (R191W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325772	NM_001395254.1(ZNF185):c.1783C>G (p.Pro595Ala)	ZNF185 (P563A +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325688	NM_001395254.1(ZNF185):c.2012A>G (p.Asp671Gly)	ZNF185 (D417G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310008	NM_001395254.1(ZNF185):c.1600C>T (p.Pro534Ser)	ZNF185 (P280S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282101	NM_001395254.1(ZNF185):c.1313T>G (p.Leu438Trp)	ZNF185 (L438W +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273038	NM_001395254.1(ZNF185):c.817A>G (p.Ser273Gly)	ZNF185 (S272G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270952	NM_001395254.1(ZNF185):c.1937C>T (p.Pro646Leu)	ZNF185 (P251L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260175	NM_001395254.1(ZNF185):c.1133C>T (p.Ala378Val)	ZNF185 (A377V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244733	NM_001395254.1(ZNF185):c.752G>A (p.Gly251Asp)	ZNF185 (G251D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231842	NM_001395254.1(ZNF185):c.362C>G (p.Thr121Arg)	ZNF185 (T121R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215184	NM_001395254.1(ZNF185):c.25C>T (p.Arg9Cys)	ZNF185 (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808775	GRCh37/hg19 Xq28(chrX:152074766-152329158)x1	PNMA3, PNMA5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808000	GRCh37/hg19 Xq28(chrX:151869765-152101001)x3	CETN2, CSAG1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526870	GRCh37/hg19 Xq28(chrX:151964881-152329158)	CETN2, NSDHL +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526869	GRCh37/hg19 Xq28(chrX:151894071-152112980)	CETN2, CSAG1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526868	GRCh37/hg19 Xq28(chrX:151869764-152329158)	CETN2, CSAG1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341028	GRCh37/hg19 Xq28(chrX:151869765-152149222)x2	ZNF185, CETN2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1206275	NM_001395254.1(ZNF185):c.1293G>C (p.Lys431Asn)	ZNF185 (K177N +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980888	GRCh37/hg19 Xq28(chrX:151970736-152091035)x3	CETN2, NSDHL +1 more	Copy number gain	not provided	GUncertain significance
Select item 980878	GRCh37/hg19 Xq28(chrX:152113018-152187023)x1	PNMA5, ZNF185	Copy number loss	not provided	GLikely benign
Select item 980876	GRCh37/hg19 Xq28(chrX:152081026-152329158)x3	PNMA3, PNMA5 +1 more	Copy number gain	not provided	GLikely benign
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 782829	NM_001395254.1(ZNF185):c.489G>A (p.Glu163=)	ZNF185	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725223	NM_001395254.1(ZNF185):c.2163C>G (p.Leu721=)	ZNF185	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715387	NM_001395254.1(ZNF185):c.830+10G>A	ZNF185	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687458	GRCh37/hg19 Xq28(chrX:151945709-152228928)x3	CETN2, NSDHL +3 more	Copy number gain	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686894	GRCh37/hg19 Xq28(chrX:151908474-152108084)x3	CETN2, CSAG1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 560107	Single allele	CETN2, CSAG1 +4 more	Duplication	not provided	GUncertain significance
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443727	GRCh37/hg19 Xq28(chrX:152033631-152329158)x2	NSDHL, PNMA3 +2 more	Copy number gain	See cases	GUncertain significance

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